Canonical Allele Identifier: PA229370
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102544
ClinVar RCV Id: RCV000088778 RCV001269040
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Phe392Ser
CA229369
NM_000277.3:c.1175T>C